1. Universal screening for familial hypercholesterolemia in preschool children and their families in Slovenia (FH-FAMILIES) : a protocol for a study of four-stage screening programMia Becker, Bernarda Vogrin, Jan Kafol, Barbara Čugalj Kern, Urh Grošelj, 2025, izvirni znanstveni članek Povzetek: Familial hypercholesterolemia (FH) is the most common metabolic disease, with prevalence estimated between 1:250 and 1:300. The affected individuals have a significantly higher risk for developing atherosclerosis and cardiovascular disease (CVD) compared to non-affected individuals. Early CVD can be prevented with early detection and treatment of FH. In Slovenia we have been conducting a national three-staged program of universal screening for FH of preschoolers. Goals: Our goal is to collect data for 5000 children, which is approximately one-quarter of one generation of preschoolers for the year 2023 (n = 5000). Methods: Our study includes both prospective and retrospective components and is a non-interventional cohort study. The prospective component began in 2023, when a questionnaire was distributed to multiple community health centers and outpatient practices in Slovenia. Pediatricians or school medicine specialists completed these questionnaires. The retrospective component involves our research team collecting the remaining necessary data from existing medical records. We are going to follow our algorithm for the implementation of the universal cholesterol screening program and seek all children that will be referred to the Pediatric Lipid Clinic at the University Children’s Hospital, University Medical Centre (UCH-UMC), Ljubljana, for further genetic testing. If a child has a positive genetic result, their parents and siblings will undergo genetic testing. Conclusions: Despite being a common genetic disorder, familial hypercholesterolemia (FH) is still largely underdiagnosed globally; fewer than 10% of affected individuals are thought to be identified. Early detection through effective screening is therefore essential to improve outcomes and prevent premature cardiovascular events.
Ključne besede: hypercholesterolemia, universal screening, preschoolers, total cholesterol, genetic testing
Objavljeno v DiRROS: 11.12.2025; Ogledov: 5; Prenosov: 3
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2. Prevalence of sarcopenia among Slovenian older adults and associated risk factorsKatarina Puš, Saša Pišot, Uroš Marušič, Manca Peskar, Kaja Teraž, Miloš Kalc, Helena Blažun Vošner, Peter Kokol, Jernej Završnik, Boštjan Šimunič, 2025, izvirni znanstveni članek Povzetek: Introduction: Sarcopenia is a multifaceted condition affecting between 10 and 16% of the global population, and although multiple classification algorithms exist, no prevalence has been reported for a representative sample of the Slovenian population. Furthermore, multiple behavioural factors, such as malnutrition, physical inactivity, sedentary lifestyle and lower cognitive function, can contribute to the risk of sarcopenia. This study aims to: a) determine sarcopenia prevalence among Slovenian older adults according to different classification algorithms, b) compare the agreement among the algorithms and c) evaluate the relationship between proposed risk factors and sarcopenia. Methods: 654 participants (≥60 years, 30.4% males) have been classified into sarcopenia groups according to eight algorithms, and agreement (Fleiss K) between them was calculated. Additionally, age, sex, nutritional status, physical activity, sedentary levels and cognitive function were assessed as sarcopenia risk/protective factors. Results: The prevalence of sarcopenia according to EWGSOP2 was 4.1%, ranging from 2.1% to 15.3%, when classified by all eight algorithms. Overall agreement between algorithms was weak (K=.429; 95% CI .414 to .444) with 0.6% of participants classified as sarcopenic by all eight algorithms. Adequate nutrition and physical activity were identified as protective factors, while age, lower cognitive function and sedentary lifestyle were considered risk factors. Conclusion: Sarcopenia prevalence among the Slovenian general population was lower than in the global population. We can conclude that different sarcopenia algorithms lead to a different prevalence of sarcopenia. It is of great importance to be cautious when comparing prevalences among studies and to further validate the classification algorithms.
Ključne besede: sarcopenia, prevalence, epidemiology, classification algorithms, risk factors
Objavljeno v DiRROS: 03.03.2025; Ogledov: 631; Prenosov: 330
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